PEDIATRICS Vol. 42 No. 3 September 1968, pp. 423-428
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HEREDITARY OROTIC ACIDURIA

II. A URINARY SCREENING TEST

Lon E. Rogers M.D.1 and F. Stanley Porter M.D.1

1 Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

A urinary screening test for hereditary orotic aciduria is described. The test is based upon the conversion of orotic acid to barbituric acid by the action of saturated bromine water and subsequent reduction by ascorbic acid. Barbituric acid reacts with p-dimethylaminobenzaldehyde (Ehrlich's Reagent) to form a colored product with a maximal absorption at wave-length 480 mµ. The screening test may be used to detect subjects either homozygous or heterozygous for hereditary orotic aciduria. Quantitation of urinary orotic acid is possible only when the concentration is high, as is found in the urine of the homozygote. The test requires a small aliquot of a random urine specimen, it is easy to perform, and many samples may be determined simultaneously.

Submitted on January 19, 1968
Accepted on March 30, 1968




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